Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1276195.RA5Fk1R81vjimmi4_GcjF6nXPc1UKMeNYD0R62fvr8-to130_assertion> ?p ?o ?g. }
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- NP1276195.RA5Fk1R81vjimmi4_GcjF6nXPc1UKMeNYD0R62fvr8-to130_assertion type Assertion NP1276195.RA5Fk1R81vjimmi4_GcjF6nXPc1UKMeNYD0R62fvr8-to130_head.
- NP1276195.RA5Fk1R81vjimmi4_GcjF6nXPc1UKMeNYD0R62fvr8-to130_assertion description "[A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1276195.RA5Fk1R81vjimmi4_GcjF6nXPc1UKMeNYD0R62fvr8-to130_provenance.
- NP1276195.RA5Fk1R81vjimmi4_GcjF6nXPc1UKMeNYD0R62fvr8-to130_assertion evidence source_evidence_literature NP1276195.RA5Fk1R81vjimmi4_GcjF6nXPc1UKMeNYD0R62fvr8-to130_provenance.
- NP1276195.RA5Fk1R81vjimmi4_GcjF6nXPc1UKMeNYD0R62fvr8-to130_assertion SIO_000772 25847113 NP1276195.RA5Fk1R81vjimmi4_GcjF6nXPc1UKMeNYD0R62fvr8-to130_provenance.
- NP1276195.RA5Fk1R81vjimmi4_GcjF6nXPc1UKMeNYD0R62fvr8-to130_assertion wasDerivedFrom befree-2016 NP1276195.RA5Fk1R81vjimmi4_GcjF6nXPc1UKMeNYD0R62fvr8-to130_provenance.
- NP1276195.RA5Fk1R81vjimmi4_GcjF6nXPc1UKMeNYD0R62fvr8-to130_assertion wasGeneratedBy ECO_0000203 NP1276195.RA5Fk1R81vjimmi4_GcjF6nXPc1UKMeNYD0R62fvr8-to130_provenance.